Logo Plateforme Maladies Rares

About Rare Diseases

A disease is considered rare when it affects fewer than one in 2000 people, in other words most often a few hundred or a few dozen patients for a given disease.

Although the diseases are rare, patients with these conditions are numerous because there are 5,000 to 8,000 rare diseases. A total of 3 million people are affected in France and 30 million in Europe.

  •  Characteristics of rare diseases
    Rare diseases are extremely diverse: neuromuscular, metabolic, infectious, autoimmune diseases, rare cancers ... 80% of them are of genetic origin.
    About two-thirds are serious and disabling. Almost half of cases are life-threatening. The occurrence of motor, sensory or intellectual deficit is observed in half of them. 
  • Consequences for those affected
    • Delayed diagnosis due to a lack of familiarity with these diseases, difficulties of referral in the health system, and scarcity of expertise.
    • Need for followed-up in an expert centre in order to receive quality care from specialised professionals.
    • An absence of curative treatment for most rare diseases and inadequate research.
    • A feeling of isolation experienced by patients and their families.
    • Day-to-day difficulties in exercising their rights and participating in social activities.
    • The scarcity of high-quality, suitable information sources.   
  • More information on rare diseases
    • Orphanet website (an INSERM service) dedicated to rare diseases: www.orpha.net
    • Maladies Rares Info Service: 0810 63 19 20 (local call cost from a landline in France) www.maladiesraresinfo.org

Ecoutante maladies rares

One of the Maladies Rares Info Services Helpline listener-counsellors